Bibliome.ai browser hg19
Search
About
Stats
FAQ
PSEN1 c.1229G>C ;(p.C410S)
Variant ID: 14-73683933-G-C
NM_000021.3(
PSEN1
):c.1229G>C;(p.C410S)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Deducing the transmembrane domain organization of presenilin-1 in gamma-secretase by cysteine disulfide cross-linking.
Biochemistry
Kornilova, Anna Y AY; Kim, Jennifer J; Laudon, Hanna H; Wolfe, Michael S MS
Publication Date: 2006-06-20
Variant appearance in text: PS1: C410S
PubMed Link:
16768455
Variant Present in the following documents:
Main text
View BVdb publication page